Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV000021061 | SCV002802442 | pathogenic | Autosomal recessive nonsyndromic hearing loss 9 | 2021-11-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003556064 | SCV004292081 | pathogenic | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp1425*) in the OTOF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OTOF are known to be pathogenic (PMID: 18381613, 19250381, 22575033). This variant is present in population databases (rs80356598, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with non-syndromic hearing loss (PMID: 33297549). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 21849). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000021061 | SCV000041716 | not provided | Autosomal recessive nonsyndromic hearing loss 9 | no assertion provided | literature only |